Associated Papers
Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report.
Ledesma PA et al.
Journal of Medical Case Reports, 2019
M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.
Chellappa V et al.
Plos One, 2013
The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
Gan EH et al.
European Journal of Endocrinology, 2012
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Surolia I et al.
Nature, 2010
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